• Title/Summary/Keyword: Gene polymorphisms

Search Result 1,053, Processing Time 0.03 seconds

Comparison and Validation of Genetic Diversity and Population Structure Using Monomorphic SNP Data of the Korean Native Black Goat and Crossbred Goat (재래흑염소와 교잡종 염소의 Monomorphic SNP 분석을 통한 유전적 다양성과 집단구조의 비교 및 검증)

  • Kim, Kwan-Woo;Lee, Jinwook;Lee, Eun-Do;Lee, Sung-Soo;Choi, You-Lim;Lim, Hyun-Tae;Kim, Yousam;Lee, Sang-Hoon
    • Journal of Life Science
    • /
    • v.30 no.11
    • /
    • pp.1007-1011
    • /
    • 2020
  • This study was conducted to analyze the genetic diversity and relationships that discriminate between Korean native black goat populations (Dangjin, Jangsu, Tongyoung, and Gyeongsang National University strains) and crossbred goats. Monomorphic single nucleotide polymorphisms (SNPs) in each strain were collected, and 133 common SNPs were selected for analysis. These 133 monomorphic SNPs showed differences in the genetic structure of the Korean native black goat and crossbred goats, and results from the principal component analysis (PCA) showed that the two can be clearly separated. Furthermore, analysis of the validation population comprising 70 individuals (Korean native black goats, n = 24; crossbred goats, n = 46) with the reference population showed that Korean native black goat strains and the reference population have the same genetic structure, and the crossbred goats shared only part of the genetic structure with the reference population. The result of the PCA analysis showed that the Korean native black goat strains form one population, whereas the foreign strains form another population which is more widely dispersed than the Korean native black goat strains. Thus, the results from this study can be used as baseline data for the conservation of genetic resources of Korean native black goat communities through utilization of monomorphic SNPs and for the introduction of exotic species for further improvement in genetic diversity. This study can also help reduce unnecessary inbreeding and gene flow between native strains.

Comprehensive comparative analysis of chloroplast genomes from seven Panax species and development of an authentication system based on species-unique single nucleotide polymorphism markers

  • Nguyen, Van Binh;Giang, Vo Ngoc Linh;Waminal, Nomar Espinosa;Park, Hyun-Seung;Kim, Nam-Hoon;Jang, Woojong;Lee, Junki;Yang, Tae-Jin
    • Journal of Ginseng Research
    • /
    • v.44 no.1
    • /
    • pp.135-144
    • /
    • 2020
  • Background: Panax species are important herbal medicinal plants in the Araliaceae family. Recently, we reported the complete chloroplast genomes and 45S nuclear ribosomal DNA sequences from seven Panax species, two (P. quinquefolius and P. trifolius) from North America and five (P. ginseng, P. notoginseng, P. japonicus, P. vietnamensis, and P. stipuleanatus) from Asia. Methods: We conducted phylogenetic analysis of these chloroplast sequences with 12 other Araliaceae species and comprehensive comparative analysis among the seven Panax whole chloroplast genomes. Results: We identified 1,128 single nucleotide polymorphisms (SNP) in coding gene sequences, distributed among 72 of the 79 protein-coding genes in the chloroplast genomes of the seven Panax species. The other seven genes (including psaJ, psbN, rpl23, psbF, psbL, rps18, and rps7) were identical among the Panax species. We also discovered that 12 large chloroplast genome fragments were transferred into the mitochondrial genome based on sharing of more than 90% sequence similarity. The total size of transferred fragments was 60,331 bp, corresponding to approximately 38.6% of chloroplast genome. We developed 18 SNP markers from the chloroplast genic coding sequence regions that were not similar to regions in the mitochondrial genome. These markers included two or three species-specific markers for each species and can be used to authenticate all the seven Panax species from the others. Conclusion: The comparative analysis of chloroplast genomes from seven Panax species elucidated their genetic diversity and evolutionary relationships, and 18 species-specific markers were able to discriminate among these species, thereby furthering efforts to protect the ginseng industry from economically motivated adulteration.

Genetic Population Structure and Phylogenetic Relationship of the Large-footed Bat (Myotis macrodactylus) on Jeju Island (제주도 큰발윗수염박쥐(Myotis macrodactylus)의 유전적 집단 구조와 계통 유연관계)

  • Kim, Yoo-Kyung;Park, Su-Gon;Han, Sang-Hoon;Han, Sang-Hyun;Oh, Hong-Shik
    • Journal of Life Science
    • /
    • v.26 no.7
    • /
    • pp.749-757
    • /
    • 2016
  • This study was carried out to reveal the genetic population structure of the Jeju Island population and the phylogenetic relationship of East Asian populations of the large-footed bat (Myotis macrodactylus) based on the genetic polymorphisms of mitochondrial cytochrome B (CYTB) and NADH dehydrogenase subunit 1 (ND1) gene sequences. A total of fourteen and nine haplotypes were found in the CYTB and ND1 sequences from East Asian bats, respectively. Haplotype distribution showed locality specific patterns. The results from ND1 haplotype analysis showed that the Jeju Island population has four haplotypes: the Mt. Halla and Western subpopulations have three ND1 haplotypes, but the Eastern subpopulation has just a single haplotype Nd03, which is commonly found on this island. The neighbor-joining (NJ) tree showed the closer relationship between Jeju Island and Japan rather than that between Jeju and Gangwon-do Province. The divergence time between the maternal ancestor lineages of Japanese and Chinese populations was estimated to be 0.789±0.063 MYBP. The secondary divergence between Jeju and Japanese bats was calculated about to be 0.168±0.013 MYBP. The Jeju population has immigrated to the island at least fifty thousand years ago. In addition, ND1 haplotype analysis suggested that the insular bats have experienced at least two further genetic differentiation events within this island. Consequently, these findings suggested that the results of this study may play a critical role in understanding the phylogenetic relationship among East Asian bat populations of M. macrodactylus. To prepare more explainable information on evolutionary correlation, analysis is still required to examine using expanded samples from China, Russia, and southern parts of the Korean Peninsula.

Discrimination and Authentication of Eclipta prostrata and E. alba Based on the Complete Chloroplast Genomes

  • Kim, Inseo;Park, Jee Young;Lee, Yun Sun;Lee, Hyun Oh;Park, Hyun-Seung;Jayakodi, Murukarthick;Waminal, Nomar Espinosa;Kang, Jung Hwa;Lee, Taek Joo;Sung, Sang Hyun;Kim, Kyu Yeob;Yang, Tae-Jin
    • Plant Breeding and Biotechnology
    • /
    • v.5 no.4
    • /
    • pp.334-343
    • /
    • 2017
  • Eclipta prostrata and E. alba are annual herbal medicinal plants and have been used as Chinese medicinal tonics. Both species are widely distributed in tropical and subtropical regions as well as in Korea. Both species have similar morphological features but E. alba has smoother leaf blade margins compared with E. prostrata. Although both species are utilized as oriental medicines, E. prostrata is more widely used than E. alba. Morphological semblances have confounded identification of either species. Here, we report the complete chloroplast genomes of both species to provide an authentication system between the two species and understand their diversity. Both chloroplast genomes were 151,733-151,757 bp long and composed of a large single copy (83,285-83,300 bp), a small single copy (18,283-18,346 bp), and a pair of inverted repeats (25,075-25,063 bp). Gene annotation revealed 80 protein coding genes, 30 tRNA genes and four rRNA genes. A phylogenetic analysis revealed that the genus Eclipta is grouped with Heliantheae tribe species in the Asteraceae family. A comparative analysis verified 29 InDels and 58 SNPs between chloroplast genomes of E. prostrata and E. alba. The low chloroplast genome sequence diversity indicates that both species are really close to each other and are not completely diverged yet. We developed six DNA markers that distinguish E. prostrata and E. alba based on the polymorphisms of chloroplast genomes between E. prostrata and E. alba. The chloroplast genome sequences and the molecular markers generated in this study will be useful for further research of Eclipta species and accurate classification of medicinal herbs.

Characterization of a Gamma Radiation-Induced Salt-Tolerant Silage Maize Mutant (방사선 유도 내염성 증진 사료용 옥수수 돌연변이체 특성 분석)

  • Cho, Chuloh;Kim, Kyung Hwa;Choi, Man-Soo;Chun, Jaebuhm;Seo, Mi-Suk;Jeong, Namhee;Jin, Mina;Son, Beom-Young;Kim, Dool-Yi
    • Korean Journal of Breeding Science
    • /
    • v.51 no.4
    • /
    • pp.318-325
    • /
    • 2019
  • Salt stress is a significant factor limiting growth and productivity in crops. However, little is known about the response and resistance mechanism to salt stress in maize. The objective of this research was to develop an enhanced salt-tolerant silage maize by mutagenesis with gamma radiation. To generate gamma radiation-induced salt-tolerant silage maize, we irradiated a KS140 inbred line with 100 Gy gamma rays. Salt tolerance was determined by evaluating plant growth, morphological changes, and gene expression under NaCl stress. We screened 10 salt-tolerant maize inbred lines from 2,248 M2 mutant populations and selected a line showing better growth under salt stress conditions. The selected 140RS516 mutant exhibited improved seed germination and plant growth when compared with the wild-type under salt stress conditions. Enhanced salt tolerance of the 140RS516 mutant was attributed to higher stomatal conductance and proline content. Using whole-genome re-sequencing analysis, a total of 328 single nucleotide polymorphisms and insertions or deletions were identified in the 140RS516 mutant. We found that the expression of the genes involved in salt stress tolerance, ABP9, CIPK21, and CIPK31, was increased by salt stress in the 140RS516 mutant. Our results suggest that the 140RS516 mutant induced by gamma rays could be a good material for developing cultivars with salt tolerance in maize.

Interactions Between Genetic Risk Score and Healthy Plant Diet Index on Cardiometabolic Risk Factors Among Obese and Overweight Women

  • Fatemeh Gholami;Mahsa Samadi;Niloufar Rasaei;Mir Saeid Yekaninejad;Seyed Ali Keshavarz;Gholamali Javdan;Farideh Shiraseb;Niki Bahrampour;Khadijeh Mirzaei
    • Clinical Nutrition Research
    • /
    • v.12 no.3
    • /
    • pp.199-217
    • /
    • 2023
  • People with higher genetic predisposition to obesity are more susceptible to cardiovascular diseases (CVDs) and healthy plant-based foods may be associated with reduced risks of obesity and other metabolic markers. We investigated whether healthy plant-foods-rich dietary patterns might have inverse associations with cardiometabolic risk factors in participants at genetically elevated risk of obesity. For this cross-sectional study, 377 obese and overweight women were chosen from health centers in Tehran, Iran. We calculated a healthy plant-based diet index (h-PDI) in which healthy plant foods received positive scores, and unhealthy plant and animal foods received reversed scores. A genetic risk score (GRS) was developed based on 3 polymorphisms. The interaction between GRS and h-PDI on cardiometabolic traits was analyzed using a generalized linear model (GLM). We found significant interactions between GRS and h-PDI on body mass index (BMI) (p = 0.02), body fat mass (p = 0.04), and waist circumference (p = 0.056). There were significant gene-diet interactions for healthful plant-derived diets and BMI-GRS on high-sensitivity C-reactive protein (p = 0.03), aspartate aminotransferase (p = 0.04), alanine transaminase (p = 0.05), insulin (p = 0.04), and plasminogen activator inhibitor 1 (p = 0.002). Adherence to h-PDI was more strongly related to decreased levels of the aforementioned markers among participants in the second or top tertile of GRS than those with low GRS. These results highlight that following a plant-based dietary pattern considering genetics appears to be a protective factor against the risks of cardiometabolic abnormalities.

Genetic Variants of the Blood Proteins and Enzymes in Beef Cattle (육우의 혈액단백질 및 효소의 유전적 변이체)

  • Sang, Byung Chan;Ryoo, Seung Heue;Sang, Byung Don
    • Korean Journal of Agricultural Science
    • /
    • v.22 no.1
    • /
    • pp.69-81
    • /
    • 1995
  • This study was conducted to examine the genetic variants of the blood proteins and enzymes in beef cattle breeds, Hereford, Angus and Sharolais reared at the Daekwanryuong Branch of the National Livestock Research Institute. Genetic polymorphisms of transferrin(Tf), post-transferrin2(pTf-2), albumin(Alb), post-albumin (pAlb), ceruloplasmin(Cp), amylase-I(Am-I) and hemoglobin(Hb) in blood were analyzed by the methods of PAGE(polyacrylamide gel electrophoresis) and STAGE(starch gel electrophoresis). The results obtained from this study were summarized as follows: 1. Tf and pTf-2 locus assumed to be controlled by codominant alleles, A. $D_1$, $D_2$ and E allele for Tf, F and S allele for pTf-2. In genotype frequencies, 25% and 90% for Tf $D_1D_2$ and pTf-2 SS in Hereford, 25% and 100% for Tf $AD_1$ and pTf-2 FF in Angus, 50% for Tf $D_1D_1$ and pTf-2 FS in Sharolais were found to have the highest frequency, respectively. In gene frequencies, 0.400 and 0.900 for Tf E and pTf-2 S allele in Hereford, 0.678 and 0.607 for Tf $D_1$ and pTf-2S in Sharolais were appeared to have the highest frequency. 2. Alb and pAlb locus assumed to be controlled by codominant alleles, only A allele for Alb, F and S allele for pAlb. In genotype frequencies, 70% for pAlb SS in Hereford, 90% for pAlb FF in Angus and 57.15% for pAlb SS in Sharolais were found to have the highest frequency. In gene frequencies, 0.825 and 0.750 for pAlb S in Hereford and Charolais, 0.900 for pAlb F in Angus were found to have the highest frequency. 3. Cp and Am-I locus appeared to be controlled by two alleles, F and S allele for Cp, B and C allele for Am-I. In genotype frequencies, 100% and 65% for Cp FF and Am-I BB in Hereford, 45% and 85% for Cp FF, and Am-I CC in Angus, 50% and 64.29% for Cp FF and Am-I BC in Sharolais were found to have the highest frequency. Gene frequencies were 1,000, 0.600 and 0.750 for Cp F in Herehord, Angus and Sharolais, 0.800, 0.875 and 0.680 for Am-I B, C and C allele in Hereford, Angus and sharolais, respectively. 4. Hb locus assumed to be controlled by codominant alleles, only A allele in Hereford and Angus, A and B allele in Sharolais. Genotype frequencies were 57.14% and 42.86% for Hb AA and AB in Sharolais, and gene frequencies were 0.785 and 0.215 for Hb A and B in Sharolais.

  • PDF

Polymorphisms of the Exons 13, 15 and 16 of Transferrin Gene in Cheju Horses (제주마 Transferrin Gene Exon 13, 15 및 16의 다형현상)

  • Kim, N.Y.;Lee, S.S.;Yang, Y.H.
    • Journal of Animal Science and Technology
    • /
    • v.44 no.4
    • /
    • pp.391-398
    • /
    • 2002
  • This study was conducted to determine the polymorphism of transferrin exons 13, 15 and 16 by Single-Strand Conformation Polymorphism(SSCP) analysis and to compare their genotypes of Cheju horse Group I (Cheju Institute), Cheju horse Group II (farms), and Thoroughbred (KRA). SSCP of transferrin exon 13, 15, and 16 showed two (A, B), three (A, B, C) and three (A, B, C) codominant alleles, respectively. The Group I and Thoroughbred showed the similar frequencies of allele A and B in transferrin exon 13, but only allele A was observed in Group Ⅱ. In transferrin exons 15 and 16, the frequencies of each allele were different in each Groups. The multiple allele frequencies in exons 15 and 16 suggested that the genotyping of this locus could be used to identify an individual and to test the parentage of offspring. The probability for parentage exclusion were 0.46 and 0.374 for exons 15 and 16 for Cheju horse Group I. Among the 13 combined genotypes of exons 13, 15 and 16, the genotype AA-AB-AB (0.372) is the most common in Cheju horse Group I, but genotype AA-AA-AA is common in the Cheju horse Group II (0.366) and Thoroughbred (0.767). The present study showed two new SNP, which was at the cDNA position 1626 (A/G) in B allele of the exon 13 and 2075 (C/T) in C allele of the exon 16 resulting in amino acid change (Threonine $\longrightarrow$ Methionine). Result showed that polymorphism of exons 13, 15 and 16 in Cheju horses was as high as in Thoroughbred and there was a differences of transferrin allele frequencies in Cheju horses.

Lead Pollution and Lead Poisoning among Children in China

  • Zheng, Yuxin
    • Proceedings of the Korean Environmental Health Society Conference
    • /
    • 2003.06a
    • /
    • pp.24-25
    • /
    • 2003
  • Lead is ubiquitous in the human environment as a result of industrialization. China's rapid industrialization and traffic growth have increased the potential for lead emissions. Lead poisoning in children is one of the most common public health problems today, and it is entirely preventable. Children are more vulnerable to lead pollution and lead in their bodies can affect their nervous, circulatory, and digestive systems. Children are exposed to lead from different sources (such as paint, gasoline, and solder) and through different pathways (such as air, food, water, dust, and soil). Although all children are exposed to some lead from food, air, dust, and soil, some children are exposed to high dose sources of lead. Significant sources of lead for China's children include industrial emissions (often close to housing and schools), leaded gasoline, and occupational exposure that occurs when parents wear lead-contaminated clothing home from work, burning of coal for home heat and cooking, contaminated food, and some traditional medicines. To assess the blood lead level in children in China, a large-scale study was conducted in 19 cities among 9 provinces during 1997 to 2000. There were 6502 children, aged 3-5 years, were recruited in the study The result indicates that the mean blood lead level was 8.83ug/dl 3-5 year old living in city area. The mean blood lead level of boys was higher than that of girls (9.1l ug/dl vs 8.73ug/dl). Almost 30 percent childrens blood lead level exceeded 10ug/dl. The average blood lead level was higher than that of in 1985 (8.83ug/dl vs 8.lug/dl). An epidemiological study was carried on the children living around the cottage industries recycling the lead from battery. Nine hundreds fifty nine children, aged 5-12 years, living in lead polluted villages where the lead smelters located near the residential area and 207 control children live in unpolluted area were recruited in the study. The lead levels in air, soil, drinking water and crops were measured. The blood lead and ZnPP level were tested for all subjects. The results show that the local environment was polluted. The lead levels both in the air and crops were much higher than that of in control area. In the polluted area, the average blood level was 49.6ug/dl (rang 19.5-89.3ug/dl). Whereas, in the unpolluted area, the average blood level was 12.4ug/dl (rang 4.6-24.8ug/dl). This study indicates that in some countryside area, some cottage industries induce seriously lead pollution and cause children health problem. For the introducing of unleaded gasoline in some large cities, such as Beijing and Shanghai, the blood lead level showed a declined trend since 1997. By 2000, the use of leaded gasoline in motor vehicles has been prohibited in China. The most recent data available show that levels of lead in blood among children in Shanghai decreased from 8.3ug/dl in 1997 to 7.6ug/dl in 1999. The prevalence rate of children lead poisoning (blood lead >10ug/dl) was also decreased from 37.8% to 24.8%. In children living in downtown area, the blood lead level reduced dramatically. To explore the relationship between gene polymorphisms and individual susceptibility of lead poisoning, a molecular epidemiological study was conducted among children living in lead polluted environment. The result showed that the subjects with ALAD2 allele has higher ZPP level, and the subjects with VDR B allele has larger head circumference than only with b allele. In the present study, we demonstrated that ALAD genotypes modify lead effects on heme metabolism and VDR gene variants influence the skull development in highly exposed children. The polymorphism of ALAD and VDR genes might be the molecular inherited factor modifying the susceptibility of lead poisoning. Recently, Chinese government pays more attention to lead pollution and lead poisoning in children problem. The leaded gasoline was prohibited used in motor vehicles since 2000. The government has decided to have a clampdown on the high-polluted lead smelters for recycling the lead from battery in countryside. It is hopeful that the risk of lead poisoning in children will be decreased in the further

  • PDF

Analysis of HLA in Patients with Obstructive Sleep Apnea Syndrome (폐쇄성 수면무호흡증후군 환자에서 사람백혈구항원 분석)

  • Lee, Sang Haak;Kim, Chi Hong;Ahn, Joong Hyun;Kang, Ji Ho;Kim, Kwan Hyoung;Song, Jeong Sup;Park, Sung Hak;Moon, Hwa Sik;Choi, Hee Baeg;Kim, Tai Gyu;Choi, Young Mee
    • Tuberculosis and Respiratory Diseases
    • /
    • v.59 no.3
    • /
    • pp.298-305
    • /
    • 2005
  • Background : Obstructive sleep apnea syndrome (OSAS) is believed to have multifactorial causes. The major risk factors for OSAS are obesity, narrowed upper airways, and abnormal cranial-facial structures. A genetic basis for OSAS has been also suggested by reports of families with many members affected. This study analyzed the HLA typing in patients with OSAS to determine the possible role of genetics in OSAS. Methods : Twenty-five Korean patients with OSAS (1 woman and 24 men; age range 30-66 years) were enrolled in this study. A diagnosis of OSAS was made using full-night polysomnography. The control group consisted of 200 healthy Korean people. Serologic typing of the HLA-A and B alleles was performed in all patients using a standard lymphocyte microcytotoxicity test. Analysis of the polymorphic second exons of the HLA-DRB1 gene was performed using a polymerase chain reaction-sequence specific oligonucleotide probe. Results : The allele frequency of HLA-A11 was significantly lower in patients with OSAS compared with the controls (p<0.05). The HLA-B allele frequencies in the patients and controls had a similar distribution. Analysis of the HLADRB1 gene polymorphisms showed an increased frequency of DRB1*09 in the OSA patients compared with the controls (p<0.05). When the analysis was performed after dividing the OSAS patients according to the severity of apnea, the allele frequency of HLA-DRB1*08 was significantly higher in the severe OSA patients (apnea index >45) than in the controls (p<0.05). Conclusion : This study revealed an association between OSAS and the HLA-A11 and DRB1*09 alleles as well as association between the disease severity and the HLA-DRB1*08 allele in Korean patients. These results suggest that genetics plays an important role in both the development and the disease severity of OSAS.